A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

BACKGROUND: Mutations in MECP2 are the main cause of Rett Syndrome. To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype. METHODS: In silico an...

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Detalles Bibliográficos
Autores principales: Sheikh, Taimoor I, Mittal, Kirti, Willis, Mary J, Vincent, John B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729535/
https://www.ncbi.nlm.nih.gov/pubmed/23866855
http://dx.doi.org/10.1186/1750-1172-8-108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729535/
https://www.ncbi.nlm.nih.gov/pubmed/23866855
http://dx.doi.org/10.1186/1750-1172-8-108

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